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PubMed:23182699 JSONTXT

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LitCoin-PubTator-for-Tuning

Id Subject Object Predicate Lexical cue tao:has_database_id
1 12-21 GeneOrGeneProduct denotes keratin 4 Gene:3851
16 96-99 DiseaseOrPhenotypicFeature denotes WSN MESH:C537179
17 111-138 DiseaseOrPhenotypicFeature denotes autosomal dominant disorder MESH:D030342
18 321-330 GeneOrGeneProduct denotes keratin 4 Gene:3851
19 374-377 DiseaseOrPhenotypicFeature denotes WSN MESH:C537179
20 425-434 GeneOrGeneProduct denotes keratin 4 Gene:3851
21 482-485 DiseaseOrPhenotypicFeature denotes WSN MESH:C537179
22 554-557 OrganismTaxon denotes boy Tax:9606
23 576-582 OrganismTaxon denotes people Tax:9606
24 595-598 DiseaseOrPhenotypicFeature denotes WSN MESH:C537179
25 690-699 GeneOrGeneProduct denotes keratin 4 Gene:3851
26 931-940 GeneOrGeneProduct denotes keratin 4 Gene:3851
27 1074-1083 GeneOrGeneProduct denotes keratin 4 Gene:3851
28 1123-1126 DiseaseOrPhenotypicFeature denotes WSN MESH:C537179
29 1224-1254 DiseaseOrPhenotypicFeature denotes inherited epithelial disorders MESH:D030342

LitCoin-Disease-Tuning-1

Id Subject Object Predicate Lexical cue ID:
T1 48-53 DiseaseOrPhenotypicFeature denotes nevus D009506
T2 89-94 DiseaseOrPhenotypicFeature denotes nevus D009506
T3 111-138 DiseaseOrPhenotypicFeature denotes autosomal dominant disorder DISEASE
T4 1321-1336 DiseaseOrPhenotypicFeature denotes genetic disease D030342

LitCoin-PubTator-for-Tuning-SeqVar

Id Subject Object Predicate Lexical cue
T1 821-833 SequenceVariant denotes 3bp deletion

LitCoin-PubTator_CellLine

Id Subject Object Predicate Lexical cue cellosaurus_accession_id
T1 96-99 CellLine denotes WSN CVCL_9881
T2 374-377 CellLine denotes WSN CVCL_9881
T3 482-485 CellLine denotes WSN CVCL_9881
T4 595-598 CellLine denotes WSN CVCL_9881
T5 1123-1126 CellLine denotes WSN CVCL_9881

LitEisuke

Id Subject Object Predicate Lexical cue #label
T1 48-53 DiseaseOrPhenotypicFeature denotes nevus D009506
T2 89-94 DiseaseOrPhenotypicFeature denotes nevus D009506
T3 111-138 DiseaseOrPhenotypicFeature denotes autosomal dominant disorder DISEASE
T4 1321-1336 DiseaseOrPhenotypicFeature denotes genetic disease D030342

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-75 Sentence denotes Mutation of keratin 4 gene causing white sponge nevus in a Japanese family.
TextSentencer_T2 76-237 Sentence denotes White sponge nevus (WSN) is a rare autosomal dominant disorder characterized by white plaques of oral mucosa; it is benign condition with no effective treatment.
TextSentencer_T3 238-307 Sentence denotes The disorder usually manifests during early childhood or adolescence.
TextSentencer_T4 308-378 Sentence denotes Mutations of keratin 4 or 13 gene have been identified as causing WSN.
TextSentencer_T5 379-507 Sentence denotes The aim of this study is to determine whether keratin 4 or 13 gene mutation was the molecular basis of WSN in a Japanese family.
TextSentencer_T6 508-599 Sentence denotes The proband in this family was an 11-year-old boy, with three other people affected by WSN.
TextSentencer_T7 600-677 Sentence denotes Genomic DNA was extracted from two affected members and an unaffected member.
TextSentencer_T8 678-778 Sentence denotes Segments of keratin 4 and 13 genes were amplified by PCR, and direct DNA sequencing was carried out.
TextSentencer_T9 779-968 Sentence denotes Sequence analysis revealed a heterozygous 3bp deletion (N160Del) localized in the helix-initiation motif at the beginning of alpha-helical domain 1A of keratin 4 gene from affected members.
TextSentencer_T10 969-1032 Sentence denotes One member lacking the phenotype was genetically tested normal.
TextSentencer_T11 1033-1127 Sentence denotes The authors identified a mutation of the keratin 4 gene recurrent in a family affected by WSN.
TextSentencer_T12 1128-1337 Sentence denotes Further investigation of the multifunctional role of keratin genes is warranted in the group of inherited epithelial disorders that may result in identification of effective treatment for this genetic disease.
T1 0-75 Sentence denotes Mutation of keratin 4 gene causing white sponge nevus in a Japanese family.
T2 76-237 Sentence denotes White sponge nevus (WSN) is a rare autosomal dominant disorder characterized by white plaques of oral mucosa; it is benign condition with no effective treatment.
T3 238-307 Sentence denotes The disorder usually manifests during early childhood or adolescence.
T4 308-378 Sentence denotes Mutations of keratin 4 or 13 gene have been identified as causing WSN.
T5 379-507 Sentence denotes The aim of this study is to determine whether keratin 4 or 13 gene mutation was the molecular basis of WSN in a Japanese family.
T6 508-599 Sentence denotes The proband in this family was an 11-year-old boy, with three other people affected by WSN.
T7 600-677 Sentence denotes Genomic DNA was extracted from two affected members and an unaffected member.
T8 678-778 Sentence denotes Segments of keratin 4 and 13 genes were amplified by PCR, and direct DNA sequencing was carried out.
T9 779-968 Sentence denotes Sequence analysis revealed a heterozygous 3bp deletion (N160Del) localized in the helix-initiation motif at the beginning of alpha-helical domain 1A of keratin 4 gene from affected members.
T10 969-1032 Sentence denotes One member lacking the phenotype was genetically tested normal.
T11 1033-1127 Sentence denotes The authors identified a mutation of the keratin 4 gene recurrent in a family affected by WSN.
T12 1128-1337 Sentence denotes Further investigation of the multifunctional role of keratin genes is warranted in the group of inherited epithelial disorders that may result in identification of effective treatment for this genetic disease.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1074-1083 gene:3851 denotes keratin 4
T1 1123-1126 disease:C1721005 denotes WSN
R1 T0 T1 associated_with keratin 4,WSN

Allie

Id Subject Object Predicate Lexical cue
SS1_23182699_1_0 76-94 expanded denotes White sponge nevus
SS2_23182699_1_0 96-99 abbr denotes WSN
AE1_23182699_1_0 SS1_23182699_1_0 SS2_23182699_1_0 abbreviatedTo White sponge nevus,WSN

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 89-94 HP_0003764 denotes nevus
T2 111-129 HP_0000006 denotes autosomal dominant

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23182699-0#12#21#gene3851 12-21 gene3851 denotes keratin 4
23182699-0#35#53#diseaseC1721005 35-53 diseaseC1721005 denotes white sponge nevus
12#21#gene385135#53#diseaseC1721005 23182699-0#12#21#gene3851 23182699-0#35#53#diseaseC1721005 associated_with keratin 4,white sponge nevus

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 178-184 http://purl.obolibrary.org/obo/UBERON_0000344 denotes mucosa
PD-UBERON-AE-B_T2 861-866 http://purl.obolibrary.org/obo/UBERON_0002488 denotes helix

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 89-94 HP:0003764 denotes nevus
TI1 48-53 HP:0003764 denotes nevus

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 76-94 ORDO:171723 denotes White sponge nevus
TI1 35-53 ORDO:171723 denotes white sponge nevus

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 178-184 http://purl.obolibrary.org/obo/UBERON_0000344 denotes mucosa
PD-UBERON-AE-B_T2 861-866 http://purl.obolibrary.org/obo/UBERON_0002488 denotes helix